UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55956950T>A | CA480364362 | PMEL | c.1353A>T (p.Thr451=) c.780A>T (p.Thr260=) c.889A>T n.235+158A>T c.359-1087A>T (n.359-1087A>T) c.1095A>T (p.Thr365=) c.1227A>T (p.Thr409=) | |
| 12 | g.55956950T>C | CA480364368 | PMEL | c.1353A>G (p.Thr451=) c.780A>G (p.Thr260=) c.889A>G n.235+158A>G c.359-1087A>G (n.359-1087A>G) c.1095A>G (p.Thr365=) c.1227A>G (p.Thr409=) | |
| 12 | g.55956950T>G | CA480364364 | PMEL | c.1353A>C (p.Thr451=) c.780A>C (p.Thr260=) c.889A>C n.235+158A>C c.359-1087A>C (n.359-1087A>C) c.1095A>C (p.Thr365=) c.1227A>C (p.Thr409=) | |
| 12 | g.55956951G>A | CA385216434 | PMEL | c.1352C>T (p.Thr451Ile) c.779C>T (p.Thr260Ile) c.888C>T n.235+157C>T c.359-1088C>T (n.359-1088C>T) c.1094C>T (p.Thr365Ile) c.1226C>T (p.Thr409Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55956951G>C | CA385216436 | PMEL | c.1352C>G (p.Thr451Arg) c.779C>G (p.Thr260Arg) c.888C>G n.235+157C>G c.359-1088C>G (n.359-1088C>G) c.1094C>G (p.Thr365Arg) c.1226C>G (p.Thr409Arg) | |
| 12 | g.55956951G= | CA2038180854 | PMEL | c.1352C= (p.Thr451=) c.779C= (p.Thr260=) c.888C= n.235+157C= c.359-1088C= (n.359-1088C=) c.1094C= (p.Thr365=) c.1226C= (p.Thr409=) | |
| 12 | g.55956951G>T | CA385216438 | PMEL | c.1352C>A (p.Thr451Lys) c.779C>A (p.Thr260Lys) c.888C>A n.235+157C>A c.359-1088C>A (n.359-1088C>A) c.1094C>A (p.Thr365Lys) c.1226C>A (p.Thr409Lys) | |
| 12 | g.55956952T>A | CA385216440 | PMEL | c.1351A>T (p.Thr451Ser) c.778A>T (p.Thr260Ser) c.887A>T n.235+156A>T c.359-1089A>T (n.359-1089A>T) c.1093A>T (p.Thr365Ser) c.1225A>T (p.Thr409Ser) | |
| 12 | g.55956952T>C | CA385216441 | PMEL | c.1351A>G (p.Thr451Ala) c.778A>G (p.Thr260Ala) c.887A>G n.235+156A>G c.359-1089A>G (n.359-1089A>G) c.1093A>G (p.Thr365Ala) c.1225A>G (p.Thr409Ala) | |
| 12 | g.55956952T>G | CA385216443 | PMEL | c.1351A>C (p.Thr451Pro) c.778A>C (p.Thr260Pro) c.887A>C n.235+156A>C c.359-1089A>C (n.359-1089A>C) c.1093A>C (p.Thr365Pro) c.1225A>C (p.Thr409Pro) | |
| 12 | g.55956953A>C | CA385216445 | PMEL | c.1350T>G (p.Ile450Met) c.777T>G (p.Ile259Met) c.886T>G n.235+155T>G c.359-1090T>G (n.359-1090T>G) c.1092T>G (p.Ile364Met) c.1224T>G (p.Ile408Met) | |
| 12 | g.55956953A>G | CA480364371 | PMEL | c.1350T>C (p.Ile450=) c.777T>C (p.Ile259=) c.886T>C n.235+155T>C c.359-1090T>C (n.359-1090T>C) c.1092T>C (p.Ile364=) c.1224T>C (p.Ile408=) | gnomAD v4 |
| 12 | g.55956953A>T | CA480364372 | PMEL | c.1350T>A (p.Ile450=) c.777T>A (p.Ile259=) c.886T>A n.235+155T>A c.359-1090T>A (n.359-1090T>A) c.1092T>A (p.Ile364=) c.1224T>A (p.Ile408=) | |
| 12 | g.55956954A= | CA2038180863 | PMEL | c.1349T= (p.Ile450=) c.776T= (p.Ile259=) c.885T= n.235+154T= c.359-1091T= (n.359-1091T=) c.1091T= (p.Ile364=) c.1223T= (p.Ile408=) | |
| 12 | g.55956954A>C | CA385216447 | PMEL | c.1349T>G (p.Ile450Ser) c.776T>G (p.Ile259Ser) c.885T>G n.235+154T>G c.359-1091T>G (n.359-1091T>G) c.1091T>G (p.Ile364Ser) c.1223T>G (p.Ile408Ser) | |
| 12 | g.55956954A>G | CA237590832 | PMEL | c.1349T>C (p.Ile450Thr) c.776T>C (p.Ile259Thr) c.885T>C n.235+154T>C c.359-1091T>C (n.359-1091T>C) c.1091T>C (p.Ile364Thr) c.1223T>C (p.Ile408Thr) | dbSNP gnomAD v4 |
| 12 | g.55956954A>T | CA385216446 | PMEL | c.1349T>A (p.Ile450Asn) c.776T>A (p.Ile259Asn) c.885T>A n.235+154T>A c.359-1091T>A (n.359-1091T>A) c.1091T>A (p.Ile364Asn) c.1223T>A (p.Ile408Asn) | |
| 12 | g.55956955T>A | CA385216450 | PMEL | c.1348A>T (p.Ile450Phe) c.775A>T (p.Ile259Phe) c.884A>T n.235+153A>T c.359-1092A>T (n.359-1092A>T) c.1090A>T (p.Ile364Phe) c.1222A>T (p.Ile408Phe) | |
| 12 | g.55956955T>C | CA385216449 | PMEL | c.1348A>G (p.Ile450Val) c.775A>G (p.Ile259Val) c.884A>G n.235+153A>G c.359-1092A>G (n.359-1092A>G) c.1090A>G (p.Ile364Val) c.1222A>G (p.Ile408Val) | |
| 12 | g.55956955T>G | CA385216451 | PMEL | c.1348A>C (p.Ile450Leu) c.775A>C (p.Ile259Leu) c.884A>C n.235+153A>C c.359-1092A>C (n.359-1092A>C) c.1090A>C (p.Ile364Leu) c.1222A>C (p.Ile408Leu) | |
| 12 | g.55956956A= | CA2038180866 | PMEL | c.1347T= (p.Ser449=) c.774T= (p.Ser258=) c.883T= n.235+152T= c.359-1093T= (n.359-1093T=) c.1089T= (p.Ser363=) c.1221T= (p.Ser407=) | |
| 12 | g.55956956A>C | CA385216454 | PMEL | c.1347T>G (p.Ser449Arg) c.774T>G (p.Ser258Arg) c.883T>G n.235+152T>G c.359-1093T>G (n.359-1093T>G) c.1089T>G (p.Ser363Arg) c.1221T>G (p.Ser407Arg) | |
| 12 | g.55956956A>G | CA6620026 | PMEL | c.1347T>C (p.Ser449=) c.774T>C (p.Ser258=) c.883T>C n.235+152T>C c.359-1093T>C (n.359-1093T>C) c.1089T>C (p.Ser363=) c.1221T>C (p.Ser407=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.55956956A>T | CA385216456 | PMEL | c.1347T>A (p.Ser449Arg) c.774T>A (p.Ser258Arg) c.883T>A n.235+152T>A c.359-1093T>A (n.359-1093T>A) c.1089T>A (p.Ser363Arg) c.1221T>A (p.Ser407Arg) | |
| 12 | g.55956957C>A | CA385216457 | PMEL | c.1346G>T (p.Ser449Ile) c.773G>T (p.Ser258Ile) c.882G>T n.235+151G>T c.359-1094G>T (n.359-1094G>T) c.1088G>T (p.Ser363Ile) c.1220G>T (p.Ser407Ile) | |
| 12 | g.55956957C>G | CA385216459 | PMEL | c.1346G>C (p.Ser449Thr) c.773G>C (p.Ser258Thr) c.882G>C n.235+151G>C c.359-1094G>C (n.359-1094G>C) c.1088G>C (p.Ser363Thr) c.1220G>C (p.Ser407Thr) | |
| 12 | g.55956957C>T | CA385216461 | PMEL | c.1346G>A (p.Ser449Asn) c.773G>A (p.Ser258Asn) c.882G>A n.235+151G>A c.359-1094G>A (n.359-1094G>A) c.1088G>A (p.Ser363Asn) c.1220G>A (p.Ser407Asn) | dbSNP gnomAD v4 |
| 12 | g.55956958T>A | CA385216462 | PMEL | c.1345A>T (p.Ser449Cys) c.772A>T (p.Ser258Cys) c.881A>T n.235+150A>T c.359-1095A>T (n.359-1095A>T) c.1087A>T (p.Ser363Cys) c.1219A>T (p.Ser407Cys) | |
| 12 | g.55956958T>C | CA385216464 | PMEL | c.1345A>G (p.Ser449Gly) c.772A>G (p.Ser258Gly) c.881A>G n.235+150A>G c.359-1095A>G (n.359-1095A>G) c.1087A>G (p.Ser363Gly) c.1219A>G (p.Ser407Gly) | dbSNP |
| 12 | g.55956958T>G | CA385216466 | PMEL | c.1345A>C (p.Ser449Arg) c.772A>C (p.Ser258Arg) c.881A>C n.235+150A>C c.359-1095A>C (n.359-1095A>C) c.1087A>C (p.Ser363Arg) c.1219A>C (p.Ser407Arg) | |
| 12 | g.55956958T= | CA2038180867 | PMEL | c.1345A= (p.Ser449=) c.772A= (p.Ser258=) c.881A= n.235+150A= c.359-1095A= (n.359-1095A=) c.1087A= (p.Ser363=) c.1219A= (p.Ser407=) | |
| 12 | g.55956959T>A | CA385216468 | PMEL | c.1344A>T (p.Glu448Asp) c.771A>T (p.Glu257Asp) c.880A>T n.235+149A>T c.359-1096A>T (n.359-1096A>T) c.1086A>T (p.Glu362Asp) c.1218A>T (p.Glu406Asp) | |
| 12 | g.55956959T>C | CA480364380 | PMEL | c.1344A>G (p.Glu448=) c.771A>G (p.Glu257=) c.880A>G n.235+149A>G c.359-1096A>G (n.359-1096A>G) c.1086A>G (p.Glu362=) c.1218A>G (p.Glu406=) | |
| 12 | g.55956959T>G | CA385216469 | PMEL | c.1344A>C (p.Glu448Asp) c.771A>C (p.Glu257Asp) c.880A>C n.235+149A>C c.359-1096A>C (n.359-1096A>C) c.1086A>C (p.Glu362Asp) c.1218A>C (p.Glu406Asp) | |
| 12 | g.55956960T>A | CA385216471 | PMEL | c.1343A>T (p.Glu448Val) c.770A>T (p.Glu257Val) c.879A>T n.235+148A>T c.359-1097A>T (n.359-1097A>T) c.1085A>T (p.Glu362Val) c.1217A>T (p.Glu406Val) | |
| 12 | g.55956960T>C | CA385216474 | PMEL | c.1343A>G (p.Glu448Gly) c.770A>G (p.Glu257Gly) c.879A>G n.235+148A>G c.359-1097A>G (n.359-1097A>G) c.1085A>G (p.Glu362Gly) c.1217A>G (p.Glu406Gly) | |
| 12 | g.55956960T>G | CA385216472 | PMEL | c.1343A>C (p.Glu448Ala) c.770A>C (p.Glu257Ala) c.879A>C n.235+148A>C c.359-1097A>C (n.359-1097A>C) c.1085A>C (p.Glu362Ala) c.1217A>C (p.Glu406Ala) | |
| 12 | g.55956961C>A | CA385216475 | PMEL | c.1342G>T (p.Glu448Ter) c.769G>T (p.Glu257Ter) c.878G>T n.235+147G>T c.359-1098G>T (n.359-1098G>T) c.1084G>T (p.Glu362Ter) c.1216G>T (p.Glu406Ter) | |
| 12 | g.55956961C>G | CA385216476 | PMEL | c.1342G>C (p.Glu448Gln) c.769G>C (p.Glu257Gln) c.878G>C n.235+147G>C c.359-1098G>C (n.359-1098G>C) c.1084G>C (p.Glu362Gln) c.1216G>C (p.Glu406Gln) | |
| 12 | g.55956961C>T | CA385216478 | PMEL | c.1342G>A (p.Glu448Lys) c.769G>A (p.Glu257Lys) c.878G>A n.235+147G>A c.359-1098G>A (n.359-1098G>A) c.1084G>A (p.Glu362Lys) c.1216G>A (p.Glu406Lys) | |
| 12 | g.55956962C>A | CA480364398 | PMEL | c.1341G>T (p.Thr447=) c.768G>T (p.Thr256=) c.877G>T n.235+146G>T c.359-1099G>T (n.359-1099G>T) c.1083G>T (p.Thr361=) c.1215G>T (p.Thr405=) | |
| 12 | g.55956962C= | CA2038180870 | PMEL | c.1341G= (p.Thr447=) c.768G= (p.Thr256=) c.877G= n.235+146G= c.359-1099G= (n.359-1099G=) c.1083G= (p.Thr361=) c.1215G= (p.Thr405=) | |
| 12 | g.55956962C>G | CA480364399 | PMEL | c.1341G>C (p.Thr447=) c.768G>C (p.Thr256=) c.877G>C n.235+146G>C c.359-1099G>C (n.359-1099G>C) c.1083G>C (p.Thr361=) c.1215G>C (p.Thr405=) | |
| 12 | g.55956962C>T | CA6620027 | PMEL | c.1341G>A (p.Thr447=) c.768G>A (p.Thr256=) c.877G>A n.235+146G>A c.359-1099G>A (n.359-1099G>A) c.1083G>A (p.Thr361=) c.1215G>A (p.Thr405=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.55956963G>A | CA6620028 | PMEL | c.1340C>T (p.Thr447Met) c.767C>T (p.Thr256Met) c.876C>T n.235+145C>T c.359-1100C>T (n.359-1100C>T) c.1082C>T (p.Thr361Met) c.1214C>T (p.Thr405Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55956963G>C | CA385216485 | PMEL | c.1340C>G (p.Thr447Arg) c.767C>G (p.Thr256Arg) c.876C>G n.235+145C>G c.359-1100C>G (n.359-1100C>G) c.1082C>G (p.Thr361Arg) c.1214C>G (p.Thr405Arg) | |
| 12 | g.55956963G= | CA2038180873 | PMEL | c.1340C= (p.Thr447=) c.767C= (p.Thr256=) c.876C= n.235+145C= c.359-1100C= (n.359-1100C=) c.1082C= (p.Thr361=) c.1214C= (p.Thr405=) | |
| 12 | g.55956963G>T | CA385216483 | PMEL | c.1340C>A (p.Thr447Lys) c.767C>A (p.Thr256Lys) c.876C>A n.235+145C>A c.359-1100C>A (n.359-1100C>A) c.1082C>A (p.Thr361Lys) c.1214C>A (p.Thr405Lys) | |
| 12 | g.55956964T>A | CA385216487 | PMEL | c.1339A>T (p.Thr447Ser) c.766A>T (p.Thr256Ser) c.875A>T n.235+144A>T c.359-1101A>T (n.359-1101A>T) c.1081A>T (p.Thr361Ser) c.1213A>T (p.Thr405Ser) | |
| 12 | g.55956964T>C | CA385216488 | PMEL | c.1339A>G (p.Thr447Ala) c.766A>G (p.Thr256Ala) c.875A>G n.235+144A>G c.359-1101A>G (n.359-1101A>G) c.1081A>G (p.Thr361Ala) c.1213A>G (p.Thr405Ala) |